LOCUS       NM_001308209            1041 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens serine protease 57 (PRSS57), transcript variant 2,
            mRNA.
ACCESSION   NM_001308209 XM_011528013
VERSION     NM_001308209.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1041)
  AUTHORS   Lin,X., Sha,Z., Trimpert,J., Kunec,D., Jiang,C., Xiong,Y., Xu,B.,
            Zhu,Z., Xue,W. and Wu,H.
  TITLE     The NSP4 T492I mutation increases SARS-CoV-2 infectivity by
            altering non-structural protein cleavage
  JOURNAL   Cell Host Microbe 31 (7), 1170-1184 (2023)
   PUBMED   37402373
  REMARK    GeneRIF: The NSP4 T492I mutation increases SARS-CoV-2 infectivity
            by altering non-structural protein cleavage.
REFERENCE   2  (bases 1 to 1041)
  AUTHORS   Wysocka,M., Gruba,N., Grzywa,R., Gieldon,A., Bachor,R.,
            Brzozowski,K., Sienczyk,M., Dieter,J., Szewczuk,Z., Rolka,K. and
            Lesner,A.
  TITLE     PEGylated substrates of NSP4 protease: A tool to study protease
            specificity
  JOURNAL   Sci Rep 6, 22856 (2016)
   PUBMED   26955973
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1041)
  AUTHORS   Kasperkiewicz,P., Poreba,M., Snipas,S.J., Lin,S.J., Kirchhofer,D.,
            Salvesen,G.S. and Drag,M.
  TITLE     Design of a Selective Substrate and Activity Based Probe for Human
            Neutrophil Serine Protease 4
  JOURNAL   PLoS One 10 (7), e0132818 (2015)
   PUBMED   26172376
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1041)
  AUTHORS   Lin,S.J., Dong,K.C., Eigenbrot,C., van Lookeren Campagne,M. and
            Kirchhofer,D.
  TITLE     Structures of neutrophil serine protease 4 reveal an unusual
            mechanism of substrate recognition by a trypsin-fold protease
  JOURNAL   Structure 22 (9), 1333-1340 (2014)
   PUBMED   25156428
  REMARK    GeneRIF: Structural insights in to substrate recognition by the
            trypsin-fold protease NSP4.
REFERENCE   5  (bases 1 to 1041)
  AUTHORS   Perera,N.C., Wiesmuller,K.H., Larsen,M.T., Schacher,B.,
            Eickholz,P., Borregaard,N. and Jenne,D.E.
  TITLE     NSP4 is stored in azurophil granules and released by activated
            neutrophils as active endoprotease with restricted specificity
  JOURNAL   J Immunol 191 (5), 2700-2707 (2013)
   PUBMED   23904161
  REMARK    GeneRIF: cathepsin C was identified as the activator of NSP4 in
            vivo, as cathepsin C deficiency resulted in a complete absence of
            NSP4 in a Papillon-Lefevre patient
REFERENCE   6  (bases 1 to 1041)
  AUTHORS   Perera,N.C., Schilling,O., Kittel,H., Back,W., Kremmer,E. and
            Jenne,D.E.
  TITLE     NSP4, an elastase-related protease in human neutrophils with
            arginine specificity
  JOURNAL   Proc Natl Acad Sci U S A 109 (16), 6229-6234 (2012)
   PUBMED   22474388
REFERENCE   7  (bases 1 to 1041)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 1041)
  AUTHORS   Polikoff,D., Kuo,W.L., Cochran,J.F., Wernick,M., Kowbel,D.,
            Myambo,K. and Collins,C.C.
  TITLE     Assignment of protease, serine-like 1 (PRSSL1) to human chromosome
            19q13 by in situ hybridization and radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 147-148 (1997)
   PUBMED   9533035
REFERENCE   9  (bases 1 to 1041)
  AUTHORS   Okubo,K., Itoh,K., Fukushima,A., Yoshii,J. and Matsubara,K.
  TITLE     Monitoring cell physiology by expression profiles and discovering
            cell type-specific genes by compiled expression profiles
  JOURNAL   Genomics 30 (2), 178-186 (1995)
   PUBMED   8586417
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112708.3 and AC004156.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001308209.1.
            
            Summary: This gene encodes an arginine-specific serine protease and
            member of the peptidase S1 family of proteins. The encoded protein
            may undergo proteolytic activation before storage in azurophil
            granules, in neutrophil cells of the immune system. Following
            neutrophil activation, the protease is released into the
            pericellular environment, where it may play a role in defense
            against microbial pathogens. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site compared to variant 1. It encodes isoform 2, which is
            shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC144505.1, ERR3456259.176623.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149004, SAMEA2154529
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329267.9/ ENSP00000327386.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-101               AC112708.3         14389-14489         c
            102-255             AC112708.3         13851-14004         c
            256-400             AC112708.3         10895-11039         c
            401-664             AC112708.3         5962-6225           c
            665-1041            AC004156.1         40963-41339         c
FEATURES             Location/Qualifiers
     source          1..1041
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1041
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /note="serine protease 57"
                     /db_xref="GeneID:400668"
                     /db_xref="HGNC:HGNC:31397"
     exon            1..101
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..871
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; serine protease 1-like protein 1; neutrophil
                     serine protease 4; protease, serine 57"
                     /codon_start=1
                     /product="serine protease 57 isoform 2 precursor"
                     /protein_id="NP_001295138.2"
                     /db_xref="CCDS:CCDS77203.1"
                     /db_xref="GeneID:400668"
                     /db_xref="HGNC:HGNC:31397"
                     /translation="MGLGLRGWGRPLLTVATALMLPVKPPGSWGAQIIGGHEVTPHSR
                     PYMASVRFGGQHHCGGFLLRARWVVSAAHCFSHRDLRTGLVVLGAHVLSTAEPTQQVF
                     GIDALTTHPDYHPMTHANDICLLRLNGSAVLGPAVGLLRPPGRRARPPTAGTRCRVAG
                     WGFVSDFEELPPGLMEAKVRVLDPDVCNSSWKGHLTLTMLCTRSGDSHRRGFCSADSG
                     GPLVCRNRAHGLVSFSGLWCGDPKTPDVYTQVSAFVAWIWDVVRRSSPQPGPLPGTTR
                     PPGEAA"
     exon            102..255
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /inference="alignment:Splign:2.1.0"
     exon            256..400
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /inference="alignment:Splign:2.1.0"
     exon            401..664
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /inference="alignment:Splign:2.1.0"
     exon            665..1041
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1024..1029
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /note="hexamer: AGTAAA"
     polyA_site      1041
                     /gene="PRSS57"
                     /gene_synonym="NSP4; PRSSL1; UNQ782"
                     /note="major polyA site"
ORIGIN      
        1 gagacgccag cctgcgtctg ccatggggct cgggttgagg ggctggggac gtcctctgct
       61 gactgtggcc accgccctga tgctgcccgt gaagcccccc ggctcctggg gggcccagat
      121 catcgggggc cacgaggtga ccccccactc caggccctac atggcatccg tgcgcttcgg
      181 gggccaacat cactgcggag gcttcctgct gcgagcccgc tgggtggtct cggccgccca
      241 ctgcttcagc cacagagacc tccgcactgg cctggtggtg ctgggcgccc acgtcctgag
      301 tactgcggag cccacccagc aggtgtttgg catcgatgct ctcaccacac accccgacta
      361 ccaccccatg acccacgcca acgacatctg cctgctgcgg ctgaacggct ctgctgtcct
      421 gggccctgca gtggggctgc tgaggccgcc agggagaagg gccaggcccc ccacagcggg
      481 gacacggtgc cgggtggctg gctggggctt cgtgtctgac tttgaggagc tgccgcctgg
      541 actgatggag gccaaggtcc gagtgctgga cccggacgtc tgcaacagct cctggaaggg
      601 ccacctgaca cttaccatgc tctgcacccg cagtggggac agccacagac ggggcttctg
      661 ctcggccgac tccggagggc ccctggtgtg caggaaccgg gctcacggcc tcgtttcctt
      721 ctcgggcctc tggtgcggcg accccaagac ccccgacgtg tacacgcagg tgtccgcctt
      781 tgtggcctgg atctgggacg tggttcggcg gagcagtccc cagcccggcc ccctgcctgg
      841 gaccaccagg cccccaggag aagccgcctg agccacaacc ttgcggcatg caaatgagat
      901 ggccgctcca ggcctggaat gttccgtggc tgggccccac gggaagcctg atgttcaggg
      961 ttggggtggg acgggcagcg gtggggcaca cccattccac atgcaaaggg cagaagcaaa
     1021 cccagtaaaa tgttaactga c
//
